Precision mouse models of Yars /dominant intermediate Charcot‐Marie‐Tooth disease type C and Sptlc1 /hereditary sensory and autonomic neuropathy type 1-Reference-Cited by-同舟云学术

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Precision mouse models of Yars /dominant intermediate Charcot‐Marie‐Tooth disease type C and Sptlc1 /hereditary sensory and autonomic neuropathy type 1

Published:2021-12-07 Issue: Volume: Page:
ISSN:0021-8782
Container-title:Journal of Anatomy
language:en
Short-container-title:J Anat

Author:

Hines Timothy J.¹,Tadenev Abigail L. D.¹,Lone Museer A.²,Hatton Courtney L.¹,Bagasrawala Inseyah¹,Stum Morgane G.¹,Miers Kathy E.¹,Hornemann Thorsten²,Burgess Robert W.¹^ORCID

Affiliation:

1. The Jackson Laboratory Bar Harbor Maine USA

2. Institute for Clinical Chemistry University of Zurich Zurich Switzerland

Funder

National Institutes of Health

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Cell Biology,Developmental Biology,Molecular Biology,Ecology, Evolution, Behavior and Systematics,Histology,Anatomy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/joa.13605

Reference48 articles.

1. SPTLC1 is mutated in hereditary sensory neuropathy, type 1;Bejaoui K.;Nature Genetics,2001

2. Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy;Blocquel D.;Nucleic Acids Research,2017

3. HSAN1 mutations in serine palmitoyltransferase reveal a close structure‐function‐phenotype relationship;Bode H.;Human Molecular Genetics,2016

4. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit‐1, cause hereditary sensory neuropathy type I;Dawkins J.L.;Nature Genetics,2001

5. Overexpression of the wild‐type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1;Eichler F.S.;Journal of Neuroscience,2009

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1. Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders;Journal of Neuromuscular Diseases;2024-07-02

2. Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy;Neurobiology of Disease;2024-06

3. Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases;Brain Communications;2024

4. tRNA Dysregulation in Neurodevelopmental and Neurodegenerative Diseases;Annual Review of Cell and Developmental Biology;2023-10-16

5. Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models;Frontiers in Neuroscience;2023-05-12

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